Wesley Brandao

Jan 15, 2025 | science.org | Ewa Ziółkowska |Yuxuan Chen |Matthew Jansen |Wesley Brandao

Editor’s summaryNeuronal ceroid lipofuscinosis type 1 and 2 (CLN1 and CLN2) are pediatric neurodegenerative disorders caused by loss-of-function mutations in PPT1 and TPP1, respectively. Although gastrointestinal problems are common for both forms of neuronal ceroid lipofuscinosis (NCL), it has been unclear how the enteric nervous system is affected by the disease. Here, Ziółkowska et al. report diminished bowel function in mouse models of CLN1 and CLN2.